eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ptosis |
| Comorbidity | C0025958|microcephaly |
| Sentences | 2 |
| PubMedID- 20601258 | The child also had phenotypic features previously described in patients with a similar deletion, as growth retardation, microcephaly, coloboma of papilla, ptosis, hearing loss, urinary tract anomalies, partial agenesis of sacrum, hypotonia and neuropsychomotor delay. |
| PubMedID- 24725350 | Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. |
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